Poublon, R.M.L.

hearing patient hearing loss disease pompe disease pompe hearing impairment hearing thresholds impairment adult erasmus mc university threshold study metab center storage frequency pure-tone audiometry enzyme ploeg glycogen prevalence population van der ploeg van der beek netherland organisation severity pure-tone erasmu 20 patients reuser therapy health pathology cause lysosomal children 58 dutch adults nicolino m abnormality fabry capelle fabry disease fabry outcome survey noise exposure infantile-onset pompe disease sensorineural type alglucosidase alfa result deficiency enzyme replacement therapy university kishnani auditory group audiometry exposure kamphoven department late-onset symptom 45–65 guideline 25–45 better-hearing dutch replacement level rotterdam factor infant muscle erasmus mc phenotype middle retrocochlear pathology horvath r worse-hearing ear columns report